nsv6635435
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:331,434
- Publication(s):Kikas et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1031 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 821 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 1086 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6635435 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 37,005,673 | 37,337,106 |
| nsv6635435 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,242,037 | 1,573,112 |
| nsv6635435 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 35,362,972 | 35,694,047 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327630 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18327630 | Remapped | Perfect | NT_187614.1:g.(124 2037_?)_(?_1573112 )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,242,037 | 1,573,112 |
| nssv18327630 | Remapped | Good | NC_000017.11:g.(37 005673_?)_(?_37337 106)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 37,005,673 | 37,337,106 |
| nssv18327630 | Submitted genomic | NC_000017.10:g.(35 362972_?)_(?_35694 047)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 35,362,972 | 35,694,047 |